A severe degenerating early-onset neuropathy (Charcot–Marie–Tooth disease type 4F) with both autosomal recessive and dominant forms. It can be caused by mutations in the MPZ gene (myelin protein zero, peripheral myelin protein), the PMP22 gene (peripheral myelin protein 22), the periaxin gene, and the early growth response gene, EGR2. Mutations in the connexin 32 gene may contribute to the phenotype. See Charcot–Marie–Tooth disease.
Subjects: Medicine and Health.